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Page 1
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
Brodehl A, Weiss J, Debus JD, Stanasiuk C, Klauke B, Deutsch MA, Fox H, Bax J, Ebbinghaus H, Gärtner A, Tiesmeier J, Laser T, Peterschröder A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. Brodehl A, et al. Among authors: tiesmeier j. J Mol Cell Cardiol. 2020 Apr;141:17-29. doi: 10.1016/j.yjmcc.2020.03.006. Epub 2020 Mar 19. J Mol Cell Cardiol. 2020. PMID: 32201174 Free article.
Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples.
Stanasiuk C, Milting H, Homm S, Persson J, Holtz L, Wittmer A, Fox H, Laser T, Knöll R, Pohl GM, Paluszkiewicz L, Jakob T, Bachmann-Mennenga B, Henzler D, Grautoff S, Veit G, Klingel K, Hori E, Kellner U, Karger B, Schlepper S, Pfeiffer H, Gummert J, Gärtner A, Tiesmeier J. Stanasiuk C, et al. Among authors: tiesmeier j. Int J Legal Med. 2023 Sep;137(5):1569-1581. doi: 10.1007/s00414-023-02966-7. Epub 2023 Feb 11. Int J Legal Med. 2023. PMID: 36773088 Free PMC article.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. Gaertner A, et al. Among authors: tiesmeier j. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
21 results